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2. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior. Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477 [TBL] [Abstract][Full Text] [Related]
3. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis]. Wu D; Zhang M; Gao Y; Huo X; Xiao H; Zhang Q; Kang B; Wang X; Liao S Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):475-478. PubMed ID: 32219841 [TBL] [Abstract][Full Text] [Related]
4. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome. Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504 [TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome. Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880 [TBL] [Abstract][Full Text] [Related]
6. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome]. von Beust G; Laccone FA; del Pilar Andrino M; Wessel A Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824 [TBL] [Abstract][Full Text] [Related]
7. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome. Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682 [TBL] [Abstract][Full Text] [Related]
8. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. Schubert C; Laccone F Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608 [TBL] [Abstract][Full Text] [Related]
9. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767 [TBL] [Abstract][Full Text] [Related]
10. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis. Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407 [TBL] [Abstract][Full Text] [Related]
11. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270 [TBL] [Abstract][Full Text] [Related]
12. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]. Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F Med Clin (Barc); 1999 Jun; 113(2):46-9. PubMed ID: 10425618 [TBL] [Abstract][Full Text] [Related]
13. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome. Hou JW; Wang JK; Wang TR Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515 [TBL] [Abstract][Full Text] [Related]
14. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128 [TBL] [Abstract][Full Text] [Related]
15. Familial Williams-Beuren syndrome. Ounap K; Laidre P; Bartsch O; Rein R; Lipping-Sitska M Am J Med Genet; 1998 Dec; 80(5):491-3. PubMed ID: 9880214 [TBL] [Abstract][Full Text] [Related]